Genetic condition teaches teen importance of heart health | NIH MedlinePlus Magazine

Elizabeth Fitch is a lot like other teens. She enjoys spending time with her friends. She’s a member of her high school’s dance team. She’s learning how to drive. What’s unique about the 16-year-old Massachusetts native, however, is a condition she was diagnosed with at age 2: familial hypercholesterolemia (FH).

FH is a genetic condition that causes very high levels of “bad” cholesterol, or low-density lipoprotein (LDL), even in otherwise healthy individuals. This increases the risk of narrowing of the arteries from an early age, which can lead to heart attack and heart disease.

The risks of the condition are well known in Elizabeth’s family. Her father, who was also diagnosed with FH, died of a heart attack in 2015 at the age of 43.

“The doctors didn’t know he had [FH] until he was about 20, and he didn’t start on medication to lower his cholesterol until he was about 30,” says Karen Fitch, Elizabeth’s mother. “He had all those years of cholesterol affecting his heart.”

Diagnosed early

Elizabeth’s doctors started testing her cholesterol when she was just 2. While a normal cholesterol level for children and adolescents is below 170, Elizabeth’s was close to 400. Medications to lower cholesterol, like statins, aren’t recommended until age 10. But doctors started her on a statin at age 9 due to her high levels.

“People are usually surprised when I tell them I have [FH] because I’m thin, I try to eat healthy, and I’m active,” she says. “But because it is inherited, people who have it may have always eaten healthy and exercised. You can’t get your cholesterol levels down with diet and exercise alone.”

Since her diagnosis, Elizabeth sees a team of doctors every six months to one year. Her care team includes her primary care doctor, a cardiologist, and a nutritionist. They monitor her health and cholesterol levels and ask whether she’s developed new symptoms such as chest pain or shortness of breath. They also discuss her nutrition and exercise habits, she says.

Her blood is tested every six months, and based on her cholesterol levels and physical growth, her doctors might make adjustments to her medication.

Importance of professional support

“Because I’ve known about it my whole life, taking medication and [going to] the doctors’ appointments are normal for me. It’s just become part of my routine,” Elizabeth says.

For others with FH, she stresses the importance of regularly taking your medication and staying on top of doctors’appointments.

“The medication is what will get your cholesterol down to a healthy level,” she says. “Ask your doctors questions. They are there to help.”

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